Linked Data
ClinVar Variation Id:
424115
ClinVar RCV Id:
RCV000482649
dbSNP Id:
rs1064796804
gnomAD v4:
18-12340205-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.12340205G>A , CM000680.2:g.12340205G>A | GRCh38 |
| NC_000018.9:g.12340204G>A , CM000680.1:g.12340204G>A | GRCh37 |
| NC_000018.8:g.12330204G>A | NCBI36 |
| NG_023361.1:g.42072C>T , LRG_666:g.42072C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000687337.1:c.*1572C>T (AFG3L2) | ENSP00000508998.1:n.*1572C>T | |
| ENST00000687477.1:n.512C>T (AFG3L2) | ||
| ENST00000688199.1:c.1838C>T (AFG3L2) | ENSP00000510237.1:p.Ala613Val | |
| ENST00000691179.1:c.1901C>T (AFG3L2) | ENSP00000509010.1:p.Ala634Val | |
| ENST00000691970.1:c.*1353C>T (AFG3L2) | ENSP00000508440.1:n.*1353C>T | |
| ENST00000692497.1:c.*406C>T (AFG3L2) | ENSP00000509870.1:n.*406C>T | |
| ENST00000692988.1:n.1794C>T (AFG3L2) | ||
| ENST00000269143.8:c.1976C>T (AFG3L2) MANE Select | ENSP00000269143.2:p.Ala659Val | |
| ENST00000269143.7:c.1976C>T (AFG3L2) | ENSP00000269143.2:p.Ala659Val | |
| ENST00000586691.1:c.88-3844G>A (TUBB6) | ||
| NM_006796.2:c.1976C>T , LRG_666t1:c.1976C>T (AFG3L2) | NP_006787.2:p.Ala659Val | |
| XM_011525601.1:c.1780-2670C>T (AFG3L2) | XP_011523903.1:n.1780-2670C>T | |
| XM_011525601.3:c.1780-2670C>T (AFG3L2) | XP_011523903.1:n.1780-2670C>T | |
| XR_001753363.1:n.415+1625G>A | ||
| XR_002958227.1:n.451+3303G>A | ||
| NM_006796.3:c.1976C>T (AFG3L2) MANE Select | NP_006787.2:p.Ala659Val |